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NM_002878.4(RAD51D):c.481-2A>G AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 16, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002257329.2

Allele description [Variation Report for NM_002878.4(RAD51D):c.481-2A>G]

NM_002878.4(RAD51D):c.481-2A>G

Genes:
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_002878.4(RAD51D):c.481-2A>G
HGVS:
  • NC_000017.11:g.35106483T>C
  • NG_031858.1:g.18387A>G
  • NM_001142571.2:c.541-2A>G
  • NM_002878.4:c.481-2A>GMANE SELECT
  • NM_133629.3:c.145-2A>G
  • LRG_516t1:c.481-2A>G
  • LRG_516:g.18387A>G
  • NC_000017.10:g.33433502T>C
  • NM_002878.3:c.481-2A>G
Links:
dbSNP: rs2091605461
NCBI 1000 Genomes Browser:
rs2091605461
Molecular consequence:
  • NM_001142571.2:c.541-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002878.4:c.481-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_133629.3:c.145-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002534820Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely pathogenic
(Feb 16, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002534820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024